Ectro-amelia syndrome associated with an interstitial deletion of 7q.
We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.
Morey
M A
MA
Division of Genetics, Children's Mercy Hospital, Kansas City, Missouri 64108.
Higgins
R R
RR
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography